gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24458077 (NFE)
Genomes Max Group AF
0.24458077 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30211645G>A , CM000668.2:g.30211645G>A | GRCh38 |
| NC_000006.11:g.30179422G>A , CM000668.1:g.30179422G>A | GRCh37 |
| NC_000006.10:g.30287401G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454678.7:c.-376+1660C>T MANE Select | ENSP00000410446.2:n.-376+1660C>T | |
| ENST00000416596.5:c.-265+1660C>T | ENSP00000413673.1:n.-265+1660C>T | |
| ENST00000418026.1:c.-51+1660C>T | ENSP00000387530.1:n.-51+1660C>T | |
| ENST00000434785.5:c.-155+1660C>T | ENSP00000400920.1:n.-155+1660C>T | |
| ENST00000453195.5:c.-155+1660C>T | ENSP00000391879.1:n.-155+1660C>T | |
| ENST00000454678.6:c.-376+1660C>T | ENSP00000410446.2:n.-376+1660C>T | |
| ENST00000487829.1:n.61+1660C>T | ||
| NM_001242783.1:c.-155+1660C>T | NP_001229712.1:n.-155+1660C>T | |
| NM_003449.4:c.-376+1660C>T | NP_003440.1:n.-376+1660C>T | |
| XM_005249374.2:c.-265+1660C>T | XP_005249431.1:n.-265+1660C>T | |
| XM_005249375.2:c.-250+1660C>T | XP_005249432.1:n.-250+1660C>T | |
| XM_005249376.2:c.-361+1660C>T | XP_005249433.1:n.-361+1660C>T | |
| XM_005249377.2:c.-140+1660C>T | XP_005249434.1:n.-140+1660C>T | |
| XM_005249378.2:c.-51+1660C>T | XP_005249435.1:n.-51+1660C>T | |
| XM_006715180.2:c.-266+1660C>T | XP_006715243.1:n.-266+1660C>T | |
| XM_011514859.1:c.-265+1660C>T | XP_011513161.1:n.-265+1660C>T | |
| XM_017011263.1:c.-155+1660C>T | XP_016866752.1:n.-155+1660C>T | |
| NM_003449.5:c.-376+1660C>T MANE Select | NP_003440.1:n.-376+1660C>T | |
| NM_001242783.2:c.-155+1660C>T | NP_001229712.1:n.-155+1660C>T |